Relier Pairs Med Genetic 3Version en ligne FOREIGN par Anthony Flish 1 Leber's Hereditary Optic Neuropathy, cause blindess, mitochondrial disease 2 Sex Reversal Syndrome 3 carrier frequency 4 Hemophilia A or B is X-Linked recessive Disorder. Which lacks? 5 Duchenne Muscular Dystrophy lacks Dystrophin which interact with actin as well as dystroglycan-sarcoglycan. stablizes sarcolemma 6 p2+2pq+q2 and p+q=1 7 X-linked Recessive 8 X-linked Dominant Pedigree 9 X-linked Recessive Pedigree 10 Red-Green Color Blindess 11 Y-linked 12 Autosomal Codominant Inheritance 13 Autosomal Dominant inheritance 14 X-Linked Dominant inheritance 15 Autosomal Recessiv Inheritance lacks clotting factor VIII or IX. 2pq 2 alleles at locus produce 2 different phenotypes that appear in heterozygote (i.e. A,B,O blood group).. Emphysema (a1-antitrypsin) Mutated gene for NADH Dehydrogenase. -Tend to skip generation -affected offspring born to unaffected parents. -equal frequency between both sex. Hardy Weinberg Equation No Father to Son transmission . Fragile X syndrome FMR1 protein. (CGG)-Arginine. lack light absorbing protein "Opsin" affect both sex. appear in every generation. (CAN CAUSE NEW AUTOSOMAL DOMINANT MUTATION) loss of SRY gene, gonad dysgenesis. increase intracellular Ca2+, activation depend on protease. Kinase level in blood (20x). Clumsy. Becker Muscular Dystrophy is less severe.